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EGFR gene copy number alterations in primary cutaneous malignant melanomas are associated with poor prognosis.

Copy number alterations of the epidermal growth factor receptor (EGFR) gene have been extensively analyzed in different cancers, but no data … xtra EGFR copies were detected in an additional 10% of samples. Polysomy 7 was associated with EGFR gene amplification. Significant correlation was found between EGFR alterations and histological subtypes, tumor thickness, ulceration and metastases formation. Amplification was significantly higher in lesions that developed metastases within 2 years after surgical ex …

Prominent response to savolitinib monotherapy in high-grade fetal adenocarcinoma with MET amplification and concurrent brain metastasis: a case report.

BACKGROUND: Mesenchymal-epithelial transition (MET) represents a potential therapeutic target in various cancers, with amplification of the MET gene identified in a subset of patients with pulmonary adenocarcinomas. However, MET gene amplification is rarely observed in high-grade fetal adenocarcinoma (H-FLAC). CASE DESCRIPTION: Here we present a novel case of a patient diagnosed with stage IV H-FLAC harboring MET amplifications and treated with savolitinib. The 69-year-old male patient, who presented with a primary complaint of cough and white sputum, had a history of hypertension for over 10…

Role of proto-oncogene activation in carcinogenesis.

The accumulation of genetic damage in the forms of activated proto-oncogenes and inactivated tumor-suppressor genes is the driving force in … a lesser extent in rodent tumors. Mechanisms that induce aberrant expression of proto-oncogenes are gene amplification and chromosomal translocation or gene rearrangement. Amplification of proto-oncogenes and possibly gene overexpression during the absence of gene amplification occur in the development of many human tumors. For a specific tumor type, amplification o …

[Establishment of a triplex real-time PCR for the detection of cholera toxin gene ctx and heat labile enterotoxin gene elt].

OBJECTIVE: To establish a triplex TaqMan real-time PCR system containing internal amplification control (IAC) to detect cholera toxin gene ctxA and enterotoxigenic Escherichia coli (ETEC)heat-labile enterotoxin gene elt. METHODS: Primers and probes were designed based on the sequences of ctxA, elt and IAC. Both sensitivity and specificity were analyzed and interactions between different reactions were evaluated. RESULTS: This system showed that the sensitivity of ctxA was 94 copies/reaction while the elt 79 copies/reaction and the amplification efficiency were 94.7% and 98.1%, respectively.

[HER-2 diagnostics].

HER-2 (c-erbB2, neu) receptor is the molecular marker of ductal breast cancer although it is verexpressed in other adenocarcinoma as well (e.g.endometrial, colorectal and lung cancers). The increased receptor expression is most frequently (90-97%) due to gene amplification. Detection of the overexpression of HER-2 helps to determine prognosis, to predict chemoresistance and to select for Herceptin therapy. HER-2 overexpression can be estimated either by immunohistochemistry or by fluorescent in situ hybridisation (FISH). Standardization of the immunohistochemical HER-2 tests is the best in Her…

Feasibility of developing reliable gene expression modules from FFPE derived RNA profiled on Affymetrix arrays.

The reliability of differential gene expression analysis on formalin-fixed, paraffin-embedded (FFPE) expression profiles generated using Affymetrix arrays is questionable, due to the high range of percent-present values reported in studies which profiled FFPE samples using this technology. Moreover, the validity of gene-modules derived from external datasets in FFPE microarray expression profiles is unknown. By generating matched gene expression profiles using RNAs derived from fresh-frozen (FF) and FFPE preserved breast tumors with Affymetrix arrays and FF/FFPE RNA specific amplification-and-

Case Report: KMT2A amplification in two adult patients with B-cell acute lymphoblastic leukemia.

The KMT2A gene, located at chromosome band 11q23, encodes a lysine methyltransferase essential for hematopoietic gene regulation. While KMT2A rearrangements are common in acute myeloid leukemia (AML) and B-cell acute lymphoblastic leukemia (B-ALL), KMT2A amplification is rare, occurring in ~1% of AML cases and even less frequently in B-ALL. Given its rarity, understanding KMT2A amplification in B-ALL is crucial for improving diagnostics and therapy. We report two adult B-ALL cases with KMT2A amplification. Patient 1, a 58-year-old male, had KMT2A amplification (6~18 copies in 68.5% of bone mar

Epidermal Growth Factor Receptor Aberrations Identified by Next-Generation Sequencing in Patients with Metastatic Cancers.

PURPOSE: The epidermal growth factor receptor (EGFR) is a therapeutic target with confirmed clinical efficacy for several cancer types. We aimed to identify EGFR aberrations and their associations with other genomic alterations in patients with metastatic diseases of various cancers. MATERIALS AND METHODS: We used real-world data from the next-generation sequencing (NGS) of 3,286 patients with metastatic cancer at the Samsung Medical Center. We analyzed the distribution of EGFR amplification, mutation, and fusion, as well as their correlations with microsatellite instability (MSI), tumor muta

Clinicopathological characteristics of Non-Small Cell Lung Cancer (NSCLC) patients with c-MET exon 14 skipping mutation, MET overexpression and amplification.

PURPOSE: MET exon 14 skipping is one of the rare mutations in non-small cell lung cancer (NSCLC), involving its pathogenesis and progression … elated to the clinicopathological characteristics and overall survival. In addition, 4 cases showed gene amplification, and 3 cases presented polyploidy condition. The correlation analysis showed a significant relationship between MET amplification and MET overexpression (Pearson's r2 = 0.4657, P < 0.005). CONCLUSION: Together, these findings indicated a significan …

Pathologic and prognostic impacts of FGFR2 amplification in gastric cancer: a meta-analysis and systemic review.

Fibroblast growth factor receptor-2 (FGFR2) gene is amplified in up to 15% of patients with gastric cancer (GC). However, the prognostic significance of FGFR2 amplification has been controversial. This meta-analysis was conducted to evaluate the clinicopathological impacts of FGFR2 amplification in patients with GC. We performed a systematic computerized search of the electronic databases of PubMed, PMC, EMBASE, Web of Science, and Google Scholar and selected studies assessing the correlation of FGFR2 amplification with pathologic features and/or prognosis in gastric adenocarcinoma. From eight

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… There are three published papers of meta-analysis which evaluated the prognostic roles of FGFR2 gene amplification or receptor overexpression in human cancers 33 - 35 . … In the current study, we systematically evaluated pathological findings and survival data of 2,377 patients from the eight studies assessing FGFR2 gene amplification in GC samples 19 - 26 . …

Use of droplet digital PCR for quantitative and automatic analysis of the HER2 status in breast cancer patients.

PURPOSE: Digital polymerase chain reaction (dPCR) has been used to yield an absolute measure of nucleic acid concentrations. Recently, a new method referred to as droplet digital PCR (ddPCR) has gained attention as a more precise and less subjective assay to quantify DNA amplification. We demonstrated the usefulness of ddPCR to determine HER2 gene amplification of breast cancer. METHODS: In this study, we used ddPCR to measure the HER2 gene copy number in clinical formalin-fixed paraffin-embedded samples of 41 primary breast cancer patients. To improve the accuracy of ddPCR analysis, we also …

Tumour amplified kinase STK15/BTAK induces centrosome amplification, aneuploidy and transformation.

The centrosomes are thought to maintain genomic stability through the establishment of bipolar spindles during cell division, ensuring equal … . Additionally, high expression of STK15 mRNA was detected in tumour cell lines without evidence of gene amplification. Ectopic expression of STK15 in mouse NIH 3T3 cells led to the appearance of abnormal centrosome number (amplification) and transformation in vitro. Finally, overexpression of STK15 in near diploid human breast epithelial cells revealed similar cent …

A microfluidic card-based electrochemical assay for the detection of sulfonamide resistance genes.

Most electroanalytical detection schemes for DNA markers require considerable time and effort from expert personnel to thoroughly follow the analysis and obtain reliable outcomes. This work aims to present an electrochemical assay performed inside a small card-based platform powered by microfluidic manipulation, requiring minimal human intervention and consumables. The assay couples a sample/signal dual amplification and DNA-modified magnetic particles for the detection of DNA amplification products. Particularly, the sul1 and sul4 genes involved in the resistance against sulfonamide antibioti

Amplification and overexpression of aurora kinase A (AURKA) in immortalized human ovarian epithelial (HOSE) cells.

Immortalization is an early and essential step of human carcinogenesis. Amplification of chromosome 20q has been shown to be a common event in immortalized cells and cancers. We have previously reported that gain and amplification of chromosome 20q is a non-random and common event in immortalized human ovarian surface epithelial (HOSE) cells. The chromosome 20q harbors genes including TGIF2 (20q11.2-q12), AIB1 (20q12), PTPN1 (20q13.1), ZNF217 (20q13.2), and AURKA (20q13.2-q13.3), which were previously reported to be amplified and overexpressed in ovarian cancers. Some of these genes may be inv

Protein expression and gene copy number changes of receptor tyrosine kinase in thymomas and thymic carcinomas.

BACKGROUND: Insulin-like growth factor-1 receptor (IGF-1R), epidermal growth factor receptor (EGFR), human epidermal growth factor receptor- … BISH high for IGF-1R and EGFR, respectively: 28 and 25 exhibited high polysomy; 8 and 14 exhibited gene amplification. No tumor was positive for HER2 or c-Met by IHC and BISH. Multivariate analysis revealed that IGF-1R gene amplification (P = 0.027), thymic carcinoma histology, and higher tumor stage were significantly correlated with an adverse prognosis. CONCLUS …

Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3).

Laminin 5, a candidate gene/protein system for mutations in the junctional forms of epidermolysis bullosa (JEB), consists of three polypeptides encoded by the LAMA3, LAMB3, and LAMC2 genes. In this study, primer pairs for the amplification of the complete cDNA as well as 22 exons of the LAMB3 gene encoding the entire beta 3 chain of laminin 5, were established. The primers for amplification of individual exons from genomic DNA were placed at least 50 bp away from the exon-intron borders in the flanking intronic sequences. For amplification of cDNA generated by RT-PCR, eight primer pairs coveri

Real-time PCR provides evidence for thyrotropin receptor mRNA expression in orbital as well as in extraorbital tissues.

OBJECTIVE: The TSH receptor (TSHr) expressed on thyroid follicular cells is the autoantigen involved in the pathogenesis of Graves' hyperthyroidism. Whether this receptor is expressed in extrathyroidal tissues, and whether it participates directly in the pathogenesis of thyroid-associated ophthalmopathy (TAO) is unclear. DESIGN: The aim of the present study was to measure TSHr mRNA in retro-orbital tissues, retro-orbital adipose tissue, extraocular muscle, and skin from patients with TAO and in several tissues from patients not affected by thyroid diseases using RT-PCR and real-time PCR. MET

Evaluation of HER2 status and characteristics by next-generation sequencing in breast cancer.

BACKGROUND: Although next-generation sequencing (NGS) has been widely used to provide comprehensive somatic mutational information for individualized therapy in breast cancer patients, whether or not it could reliably evaluate HER2 status to guide targeted therapy when compared to the current IHC/FISH standard criteria still lacks sufficient validations. METHODS: We analyzed the clinicopathological and NGS somatic genomic data of 1,171 Chinese breast cancer patients. A commercial 520 gene panel was used to generate genomic variation data by NGS in breast cancer samples. We compared the concor

Concurrent MYC-Amplified Secondary Angiosarcoma and Recurrent Carcinoma in the Breast: A Rare Presentation With Unique Clinical Features and Distinct MYC Amplification Patterns.

Secondary angiosarcoma of the breast is a rare and aggressive malignancy, with characteristic MYC amplification. It typically arises in the … e concurrence of angiosarcoma and carcinoma in the same breast. More intriguingly, the distinct MYC gene amplification patterns in the concurrent angiosarcoma and carcinoma reflect the complexity of the MYC gene in the tumorigenesis of different types of malignancies and may explain the different levels of MYC protein expression on immunohistochemistry.

A rare case of a giant retroperitoneal lipoma with multiple limb and trunk lipomata without familial multiple lipomatosis.

Retroperitoneal lipoma is exceedingly rare, and due to the difficulty in distinguishing between retroperitoneal lipoma and well-differentiated liposarcoma (WDLS), recommendation is en-bloc resection. A 58-year-old male was investigated for scrotal swelling, ultrasound and computed tomography showed a well-defined lipomatous mass occupying much of the left side of the lower abdomen. At laparotomy, a large left-sided retroperitoneal mass was found. Histology reported a 160 mm × 150 mm × 90 mm fatty tumour weighing 1540 g. MDM2 gene amplification was not present on fluorescence in situ hybridizat…